Variant report

Variant	rs72633974
Chromosome Location	chr5:74853623-74853624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74835008..74837584-chr5:74853567..74856265,2	K562	blood:
2	chr5:74852680..74855218-chr5:74864113..74866476,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10036682	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10038945	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10041470	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10055011	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10059022	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10061689	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10067900	0.93[EUR][1000 genomes]
rs10074747	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10076819	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10077427	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10078671	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10474437	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12173076	0.85[EUR][1000 genomes]
rs13360099	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13361353	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1469051	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1553234	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1820049	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1909719	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2287710	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs253410	0.82[ASN][1000 genomes]
rs28408106	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28612248	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28668361	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28874007	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34339	0.82[ASN][1000 genomes]
rs34342	0.82[ASN][1000 genomes]
rs34343	0.82[ASN][1000 genomes]
rs3804231	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4703671	0.91[EUR][1000 genomes]
rs4703675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4704213	0.93[EUR][1000 genomes]
rs4704229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56859362	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5744544	0.90[EUR][1000 genomes]
rs5744545	0.89[EUR][1000 genomes]
rs5744636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744667	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5744704	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5744709	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5744712	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57907925	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58519566	0.93[EUR][1000 genomes]
rs58841453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6891560	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72633964	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72633965	0.93[EUR][1000 genomes]
rs72633966	0.87[EUR][1000 genomes]
rs72633967	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72633968	0.88[EUR][1000 genomes]
rs72633969	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72633970	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72633971	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72633972	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72633973	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72633975	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72633976	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72633977	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7356633	0.93[EUR][1000 genomes]
rs7726478	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs904743	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9293652	0.93[EUR][1000 genomes]
rs9293654	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9293655	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979182	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv882201	chr5:74787310-74890618	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv882204	chr5:74811497-74856142	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv882205	chr5:74811497-74862921	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74810400-74862400	Weak transcription	Hela-S3	cervix
2	chr5:74818200-74897400	Weak transcription	Thymus	Thymus
3	chr5:74822800-74896000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:74826000-74862400	Weak transcription	Fetal Heart	heart
5	chr5:74831000-74859000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr5:74831000-74862400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:74831200-74877200	Weak transcription	Fetal Kidney	kidney
8	chr5:74832400-74859000	Weak transcription	Brain Angular Gyrus	brain
9	chr5:74832800-74861400	Weak transcription	Gastric	stomach
10	chr5:74833000-74855400	Weak transcription	Esophagus	oesophagus
11	chr5:74833000-74860600	Weak transcription	A549	lung
12	chr5:74833000-74861600	Weak transcription	Spleen	Spleen
13	chr5:74833200-74862600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:74833400-74861600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:74833400-74861600	Weak transcription	Pancreas	Pancrea
16	chr5:74833400-74862000	Weak transcription	Lung	lung
17	chr5:74833400-74906800	Weak transcription	Brain Substantia Nigra	brain
18	chr5:74834600-74862400	Weak transcription	Small Intestine	intestine
19	chr5:74837600-74874400	Weak transcription	Fetal Brain Male	brain
20	chr5:74839400-74897400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:74840400-74862400	Weak transcription	Ovary	ovary
22	chr5:74841200-74861800	Weak transcription	Right Ventricle	heart
23	chr5:74841200-74899400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:74841800-74861600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:74845200-74854800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:74846200-74865400	Weak transcription	Colonic Mucosa	Colon
27	chr5:74847200-74861800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr5:74847400-74853800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:74847400-74853800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr5:74847400-74854000	Strong transcription	Dnd41	blood
31	chr5:74847800-74861400	Weak transcription	HMEC	breast
32	chr5:74848000-74853800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:74848400-74854400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:74848800-74853800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:74849000-74861400	Weak transcription	Colon Smooth Muscle	Colon
36	chr5:74849000-74861800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr5:74849200-74854800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:74849200-74862400	Weak transcription	HSMMtube	muscle
39	chr5:74849600-74854000	Strong transcription	Fetal Muscle Trunk	muscle
40	chr5:74849600-74856200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:74850000-74860600	Weak transcription	K562	blood
42	chr5:74850000-74861200	Weak transcription	NH-A	brain
43	chr5:74850000-74862400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr5:74850000-74878000	Weak transcription	HepG2	liver
45	chr5:74850200-74854200	Weak transcription	Placenta	Placenta
46	chr5:74850200-74859000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr5:74850200-74862000	Weak transcription	NHEK	skin
48	chr5:74850200-74862400	Weak transcription	NHDF-Ad	bronchial
49	chr5:74850200-74896200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr5:74850400-74854000	Weak transcription	Osteobl	bone

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